Incidental Mutation 'R7331:Uqcc1'
ID |
569226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uqcc1
|
Ensembl Gene |
ENSMUSG00000005882 |
Gene Name |
ubiquinol-cytochrome c reductase complex assembly factor 1 |
Synonyms |
mbFZb, 2410003P15Rik, 2310079L17Rik, Uqcc, Cbp3, Bfzp, 3110038N19Rik |
MMRRC Submission |
045424-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.910)
|
Stock # |
R7331 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155688814-155772230 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155753731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 48
(V48A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006036]
[ENSMUST00000109631]
[ENSMUST00000109632]
[ENSMUST00000109636]
[ENSMUST00000133726]
[ENSMUST00000136933]
[ENSMUST00000142655]
[ENSMUST00000151078]
[ENSMUST00000152766]
[ENSMUST00000159238]
|
AlphaFold |
Q9CWU6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006036
AA Change: V48A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000006036 Gene: ENSMUSG00000005882 AA Change: V48A
Domain | Start | End | E-Value | Type |
Pfam:Ubiq_cyt_C_chap
|
105 |
191 |
8.1e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109631
|
SMART Domains |
Protein: ENSMUSP00000105259 Gene: ENSMUSG00000005882
Domain | Start | End | E-Value | Type |
Pfam:Ubiq_cyt_C_chap
|
63 |
203 |
2.1e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109632
AA Change: V48A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105260 Gene: ENSMUSG00000005882 AA Change: V48A
Domain | Start | End | E-Value | Type |
Pfam:Ubiq_cyt_C_chap
|
131 |
191 |
4.3e-19 |
PFAM |
Pfam:Ubiq_cyt_C_chap
|
188 |
245 |
2.9e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109636
AA Change: V48A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105264 Gene: ENSMUSG00000005882 AA Change: V48A
Domain | Start | End | E-Value | Type |
Pfam:Ubiq_cyt_C_chap
|
131 |
271 |
6.7e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133726
AA Change: V48A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136933
AA Change: V48A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139232
|
SMART Domains |
Protein: ENSMUSP00000123019 Gene: ENSMUSG00000005882
Domain | Start | End | E-Value | Type |
Pfam:Ubiq_cyt_C_chap
|
98 |
238 |
2e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142655
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151078
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152766
AA Change: V42A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122886 Gene: ENSMUSG00000005882 AA Change: V42A
Domain | Start | End | E-Value | Type |
Pfam:Ubiq_cyt_C_chap
|
98 |
238 |
3.4e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159238
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (48/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,331,728 (GRCm39) |
H47L |
possibly damaging |
Het |
Adgrf5 |
T |
C |
17: 43,748,484 (GRCm39) |
S438P |
probably damaging |
Het |
Atg16l2 |
C |
A |
7: 100,948,255 (GRCm39) |
K96N |
probably damaging |
Het |
Bglap2 |
A |
T |
3: 88,285,567 (GRCm39) |
M35K |
possibly damaging |
Het |
Btbd1 |
T |
A |
7: 81,465,720 (GRCm39) |
I209L |
probably damaging |
Het |
Cdc34 |
T |
C |
10: 79,521,146 (GRCm39) |
Y148H |
probably damaging |
Het |
Clcc1 |
A |
G |
3: 108,575,394 (GRCm39) |
D157G |
probably damaging |
Het |
Csmd2 |
A |
T |
4: 128,458,021 (GRCm39) |
|
probably null |
Het |
Ctsj |
G |
A |
13: 61,151,645 (GRCm39) |
S90L |
probably benign |
Het |
Cycs |
A |
G |
6: 50,542,532 (GRCm39) |
F37L |
probably benign |
Het |
Dync2li1 |
T |
A |
17: 84,955,086 (GRCm39) |
C248* |
probably null |
Het |
Dzank1 |
A |
T |
2: 144,332,190 (GRCm39) |
I382N |
probably benign |
Het |
Eif4a3l2 |
G |
A |
6: 116,529,130 (GRCm39) |
V336I |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,739,066 (GRCm39) |
I406V |
probably damaging |
Het |
Ero1b |
A |
G |
13: 12,615,015 (GRCm39) |
E282G |
probably damaging |
Het |
Fastkd5 |
A |
T |
2: 130,457,647 (GRCm39) |
N314K |
possibly damaging |
Het |
Fbh1 |
A |
T |
2: 11,768,797 (GRCm39) |
C300S |
probably benign |
Het |
Fchsd1 |
T |
C |
18: 38,101,823 (GRCm39) |
I49V |
possibly damaging |
Het |
Foxn1 |
A |
G |
11: 78,249,615 (GRCm39) |
Y637H |
probably damaging |
Het |
Gabarap |
A |
G |
11: 69,885,298 (GRCm39) |
E101G |
possibly damaging |
Het |
Gm7247 |
A |
G |
14: 51,601,792 (GRCm39) |
R22G |
probably damaging |
Het |
Gm7694 |
A |
T |
1: 170,129,180 (GRCm39) |
D116E |
possibly damaging |
Het |
Gm9508 |
A |
G |
10: 77,532,629 (GRCm39) |
C147R |
unknown |
Het |
Gpr152 |
A |
G |
19: 4,192,608 (GRCm39) |
M50V |
probably damaging |
Het |
Hunk |
T |
A |
16: 90,269,450 (GRCm39) |
N331K |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,162,409 (GRCm39) |
T351A |
probably benign |
Het |
Iqub |
A |
G |
6: 24,500,393 (GRCm39) |
V287A |
possibly damaging |
Het |
Lix1 |
A |
T |
17: 17,647,474 (GRCm39) |
T47S |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,553,622 (GRCm39) |
|
probably null |
Het |
Nup107 |
G |
A |
10: 117,606,103 (GRCm39) |
T500I |
probably damaging |
Het |
Phf21b |
G |
C |
15: 84,675,295 (GRCm39) |
R405G |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,241,101 (GRCm39) |
V709A |
probably damaging |
Het |
Psme3ip1 |
T |
A |
8: 95,309,564 (GRCm39) |
K143* |
probably null |
Het |
Rfc1 |
T |
C |
5: 65,468,387 (GRCm39) |
T109A |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,203,941 (GRCm39) |
V302A |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,760,517 (GRCm39) |
I1522T |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,594,010 (GRCm39) |
R2578L |
possibly damaging |
Het |
Scgb2b18 |
C |
T |
7: 32,872,681 (GRCm39) |
W41* |
probably null |
Het |
Sdccag8 |
C |
G |
1: 176,695,856 (GRCm39) |
Q387E |
possibly damaging |
Het |
Slc25a17 |
G |
A |
15: 81,213,346 (GRCm39) |
T119M |
probably damaging |
Het |
Slc45a4 |
G |
T |
15: 73,477,489 (GRCm39) |
Q16K |
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
Slc7a14 |
T |
C |
3: 31,311,880 (GRCm39) |
T47A |
probably benign |
Het |
Stard6 |
A |
G |
18: 70,616,553 (GRCm39) |
R71G |
probably damaging |
Het |
Tecr |
A |
G |
8: 84,298,564 (GRCm39) |
V321A |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,195,218 (GRCm39) |
F290L |
probably benign |
Het |
V1rd19 |
T |
A |
7: 23,703,308 (GRCm39) |
I258N |
probably damaging |
Het |
Zar1 |
T |
A |
5: 72,737,655 (GRCm39) |
E249V |
possibly damaging |
Het |
Zfp101 |
T |
C |
17: 33,601,559 (GRCm39) |
T66A |
possibly damaging |
Het |
Zyx |
A |
G |
6: 42,328,593 (GRCm39) |
H230R |
probably benign |
Het |
|
Other mutations in Uqcc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01950:Uqcc1
|
APN |
2 |
155,700,058 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02883:Uqcc1
|
APN |
2 |
155,753,749 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0433:Uqcc1
|
UTSW |
2 |
155,752,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R1506:Uqcc1
|
UTSW |
2 |
155,753,738 (GRCm39) |
missense |
probably damaging |
0.98 |
R1579:Uqcc1
|
UTSW |
2 |
155,763,641 (GRCm39) |
nonsense |
probably null |
|
R4801:Uqcc1
|
UTSW |
2 |
155,700,026 (GRCm39) |
splice site |
probably benign |
|
R5049:Uqcc1
|
UTSW |
2 |
155,752,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R6042:Uqcc1
|
UTSW |
2 |
155,763,564 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6526:Uqcc1
|
UTSW |
2 |
155,693,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R7548:Uqcc1
|
UTSW |
2 |
155,751,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R7721:Uqcc1
|
UTSW |
2 |
155,700,066 (GRCm39) |
missense |
probably benign |
0.13 |
R7780:Uqcc1
|
UTSW |
2 |
155,752,073 (GRCm39) |
splice site |
probably null |
|
R8723:Uqcc1
|
UTSW |
2 |
155,729,100 (GRCm39) |
nonsense |
probably null |
|
R9104:Uqcc1
|
UTSW |
2 |
155,743,217 (GRCm39) |
critical splice donor site |
probably null |
|
R9366:Uqcc1
|
UTSW |
2 |
155,771,995 (GRCm39) |
unclassified |
probably benign |
|
R9412:Uqcc1
|
UTSW |
2 |
155,693,329 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGGCTATCTGCTCAGGAGAC -3'
(R):5'- GGTACATACCAGATGCTGTTCTG -3'
Sequencing Primer
(F):5'- CAGAGGTGCACATATTCAGTTAG -3'
(R):5'- CAGATGCTGTTCTGGGTGCC -3'
|
Posted On |
2019-09-13 |